Varaico: Literature-Extracted Genetic Variants

Gene:MBL2
Variant:p.G54D
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MBL2

NM_001378373.1:p.G54D

Associated Papers

MBL2 deficiency and IgA Nephropathy in transplant patients: Is complement inhibition always beneficial?

Stea ED et al.

European Journal of Internal Medicine, 2026

Association of MBL2 gene polymorphisms with type 2 diabetes and its complications in Moroccan population.

El Alami H et al.

Nucleosides, Nucleotides & Nucleic Acids, 2026

Genetics of childhood tuberculosis: A scoping review.

Pinheiro Mascarenhas MA et al.

Paediatric Respiratory Reviews, 2025

Exploratory Study on Genetic Variants Related to Hydatidosis Susceptibility and Albendazole Pharmacogenetics in the Cusco Region in Peru.

Jaramillo-Valverde L et al.

Frontiers in Bioscience (scholar Edition), 2025

Absence of evidence to diagnose lectin pathway deficiencies with a monogenic inborn error of immunity.

García-Soidán A et al.

The Journal of Allergy and Clinical Immunology, 2025

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.

Weddle CJ et al.

Npj Precision Oncology, 2025

40000798 (PubMed )
Supplement: 41698_2025_837_MOESM3_ESM.xlsx › BC5

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years.

Dorneles J et al.

Hematology Reports, 2025

The effect of the MBL2 gene rs1800450 variant on COVID-19 development in Turkish patients.

Capraz M et al.

Nucleosides, Nucleotides & Nucleic Acids, 2025

Stratified analyses refine association between TLR7 rare variants and severe COVID-19.

Boos J et al.

Hgg Advances, 2024

38944683 (PubMed )
Supplement: mmc4.xlsx › single_variants_p_lt_0.05

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.

Kovanda A et al.

International Journal of Molecular Sciences, 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.

Aaron R et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2024

High production MBL2 polymorphisms protect against COVID-19 complications in critically ill patients: A retrospective cohort study.

de Andrade LV et al.

Heliyon, 2024

Clinical associations of complement-activating collectins, collectin-10, collectin-11 and mannose-binding lectin in preterm neonates.

Gajek G et al.

Frontiers in Immunology, 2024

MBL2 gene variants and susceptibility to meningitis in Egyptian patients.

Sokkar MF et al.

Gene, 2023

Association between mannose binding lectin gene polymorphisms and clinical severity of COVID-19 in children.

Yilmaz D et al.

Molecular Biology Reports, 2023

A narrative review of precision medicine in neonatal sepsis: genetic and epigenetic factors associated with disease susceptibility.

Dai W et al.

Translational Pediatrics, 2023

Association of the Mannose-Binding Lectin 2 BB Genotype with COVID-19-Related Mortality.

Kashiwagi Y et al.

Life (basel, Switzerland), 2023

Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study.

Izakovicova P et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2023

Mannose-binding lectin 2 gene polymorphisms and predisposition to allergic bronchial asthma in a western Romanian children population: an observational study.

Borta SM et al.

The Journal of International Medical Research, 2022

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

Association Between Variants of the Mannose-Binding Lectin 2 Gene and Susceptibility to Sepsis in the Hainan Island.

Cheng S et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2022

Characterizing mucociliary clearance in young children with cystic fibrosis.

Laube BL et al.

Pediatric Research, 2022

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Jahanafrooz Z et al.

Gene, 2022

Genetic polymorphisms associated with susceptibility to COVID-19 disease and severity: A systematic review and meta-analysis.

Dieter C et al.

Plos One, 2022

Identification of candidate genes in a family with cancer overload by whole-exome sequencing.

Ödemiş DA et al.

The Turkish Journal of Pediatrics, 2022

Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Butnariu LI et al.

Journal of Clinical Medicine, 2021

Toll-Like Receptors and Mannose Binding Lectin Gene Polymorphisms Associated with Cryptosporidial Diarrhea in Children in Southern India.

Liakath FB et al.

The American Journal of Tropical Medicine and Hygiene, 2021

Whole genome, exon mutation and transcriptomic profiling of acute myeloid leukemia: A case report.

Lai SH et al.

Oncology Letters, 2021

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M et al.

European Journal of Medical Genetics, 2021

Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection.

Medetalibeyoglu A et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2021

Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt.

ElHefnawi M et al.

Gene, 2021

A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations.

Mrazkova J et al.

Diagnostics (basel, Switzerland), 2021

The Role of Mannose-binding Lectin in Infectious Complications of Pediatric Hemato-Oncologic Diseases.

Dobi M et al.

The Pediatric Infectious Disease Journal, 2021

Genetic Association With Pseudomonas aeruginosa Acquisition in Cystic Fibrosis: Influence of Surfactant Protein D and Mannose-Binding Lectin.

Nourkami-Tutdibi N et al.

Frontiers in Immunology, 2021

Pattern Recognition Molecules of Lectin Complement Pathway in Ischemic Stroke.

Tsakanova G et al.

Pharmacogenomics and Personalized Medicine, 2021

Mannose-Binding Lectin Levels in Late-Onset Sepsis in Preterm Infants: Results from a Prospective Study in a Tertiary Care Center.

Dogan P et al.

Fetal and Pediatric Pathology, 2020

Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Klaassen K et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2020

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

Association of MBL-2 gene polymorphisms with systemic lupus erythematosus: an updated meta-analysis and trial sequential analysis.

Mahto H et al.

Lupus, 2020

The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.

Crumbaker M et al.

Cancers, 2020

32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs

Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Wang M et al.

Respiratory Research, 2020

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese children.

Bodi JM et al.

Malaria Journal, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."